ATP6V0E1 (ATPase H+ transporting V0 subunit e1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 8992 |
| Gene name | ATPase H+ transporting V0 subunit e1 |
| Gene symbol | ATP6V0E1 |
| Synonyms (NCBI Gene) |
ATP6HATP6V0EM9.2Vma21Vma21p
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| Chromosome | 5 |
| Chromosome location | 5q35.1 |
| Summary | This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sort |
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miRNA
miRNA information provided by mirtarbase database.
436
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Transcription factors
Transcription factors information provided by TRRUST V2 database.
1
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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O15342 | ||||||||||
| Protein name | V-type proton ATPase subunit e 1 (V-ATPase subunit e 1) (V-ATPase 9.2 kDa membrane accessory protein) (V-ATPase M9.2 subunit) (Vacuolar proton pump subunit e 1) | ||||||||||
| Protein function | Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:33065002). V-ATPase is responsibl | ||||||||||
| PDB | 6WLW , 6WM2 , 6WM3 , 6WM4 , 7U4T , 7UNF | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:17350184}. | ||||||||||
| Sequence |
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| Sequence length | 81 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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